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Human mitochondrial mutations
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Mitochondrial DNA (mtDNA) codes for products necessary for electron transport and mitochondrial gene translation. mtDNA mutations can lead to human disease and influence organismal fitness.
15p
vihagrid
30-01-2023
4
3
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Mitochondrial heteroplasmy, the presence of more than one mitochondrial DNA (mtDNA) variant in a cell or individual, is not as uncommon as previously thought. It is mostly due to the high mutation rate of the mtDNA and limited repair mechanisms present in the mitochondrion. Motivated by mitochondrial diseases, much focus has been placed into studying this phenomenon in human samples and in medical contexts.
14p
viaristotle
29-01-2022
6
0
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The accumulation of mitochondrial DNA (mtDNA) mutations, and the reduction of mtDNA copy number, both disrupt mitochondrial energetics, and may contribute to aging and age-associated phenotypes. However, there are few genetic and epidemiological studies on the spectra of blood mtDNA heteroplasmies, and the distribution of mtDNA copy numbers in different age groups and their impact on age-related phenotypes.
14p
vilarryellison
29-10-2021
1
0
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Several methods have been developed to predict the pathogenicity of missense mutations but none has been specifically designed for classification of variants in mtDNA-encoded polypeptides.
11p
vioklahoma2711
19-11-2020
7
1
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Previous study showed that mitochondrial ND6 (mitND6) gene missense mutation resulted in NADH dehydrogenase deficiency and was associated with tumor metastasis in several mouse tumor cell lines. In the present study, we investigated the possible role of mitND6 gene nonsense and missense mutations in the metastasis of human lung adenocarcinoma.
10p
vialabama2711
21-09-2020
15
0
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(BQ) Part 1 of the document High-Yield cell and molecular biology - Cell and molecular biology presents the following contents: Chromosomal DNA, chromosome replication, meiosis and genetic recombination, the human nuclear genome, the human mitochondrial genome, protein synthesis, control of gene expression, mutations of the dna sequence.
75p
thangnamvoiva3
28-06-2016
44
5
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(BQ) Part 1 of the document BRS Genetics presents the following contents: The human nuclear genome, DNA packaging, chromosome replication, mendelian inheritance, uniparental disomy and repeat mutations, mitochondrial inheritance, multifactorial inherited disorders, population genetics, mitosis, meiosis and gametogenesis.
109p
thangnamvoiva2
25-06-2016
46
3
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Whereas the majority of disease-related mitochondrial DNA mutations exhibit significant biochemical and clinical heterogeneity, mutations within the mitochondrially encoded human cytochrome b gene (MTCYB) are almost exclusively associated with isolated complex III deficiency in muscle and a clinical presentation involving exercise intolerance.
10p
fptmusic
11-04-2013
33
1
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The mitochondrial cytochromeb missense mutation, G167E, has been reported inapatientwithcardiomyopathy. The residue G167 is located in an extramembranous helix close to the hinge region of the iron–sulfur protein. In order to characterize the effects of the mutation on the structure and function of thebc1complex, we introducedG167E into the highly similar yeast cytochromeb. The mutation had a severe effect on the respiratory function, with the activity of thebc1complex decreased to a fewper cent of the wild type....
7p
dell39
03-04-2013
39
3
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A small deletion in the second intron of humanNDUFV2 (IVS2+5_+8delGTAA) has been shown to cause hyper-trophic cardiomyopathy and encephalomyopathy [Be´nit, P., Beugnot, R., Chretien, D., Giurgea, I., de Lonlay-Debeney, P., Issartel, J.P., Kerscher, S., Rustin, P., Ro¨tig, A. & Munnich, A. (2003)Human Mutat.21, 582–586]. Skipping of exon 2 results in a partial deletion of the mitochondrial targeting sequence of the precursor for the 24 kDa subunit of respiratory chain complex I.
8p
dell39
03-04-2013
42
2
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Friedreich’s ataxia results from a deficiency in the mitochondrial protein frataxin, which carries single point mutations in some patients. In the pres-ent study, we analysed the consequences of different disease-related muta-tions in vitro on the stability and dynamics of human frataxin.
11p
galaxyss3
07-03-2013
38
2
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Inherited mitochondrial disorders are transmitted in a matrilineal fashion; all children from an affected mother will inherit the disease, but it will not be transmitted from an affected father to his children (Fig. 62-11D ). Alterations in the mtDNA affecting enzymes required for oxidative phosphorylation lead to reduction of ATP supply, generation of free radicals, and induction of apoptosis. Several syndromic disorders arising from mutations in the mitochondrial genome are known in humans and they affect both protein-coding and tRNA genes (Table 62-1 and Table 62-5).
5p
konheokonmummim
03-12-2010
87
5
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